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Identification for glaucoma related genes and application for diagnosis and pharmacogenomics

Research Project

Project/Area Number 22591928
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionTohoku University

Principal Investigator

FUSE Nobuo  東北大学, 東北メディカル・メガバンク機構, 教授 (10302134)

Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords遺伝学 / 遺伝子 / ゲノム / 臨床
Research Abstract

We have done the screening for the glaucoma genes using the single nucleotide polymorphisms (SNPs). Using association study, we identified the glaucoma susceptibility genes for primary open angle glaucoma, normal tension glaucoma, and exfoliation glaucoma. We also detect the rare amino acid substitutions in glutamate transporter gene GLAST by candidate gene approach. By the association study using SNPs and candidate gene approach, we detected glaucoma susceptibility genes.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (22 results)

All 2013 2012 2011 2010

All Journal Article (7 results) (of which Peer Reviewed: 7 results) Presentation (15 results) (of which Invited: 6 results)

  • [Journal Article] Molecular Genetic Analysis of Primary Open-angle Glaucoma, Normal Tension Glaucoma, and Developmental Glaucoma for the VAV2 and VAV3 Gene Variants in Japanese Subjects2013

    • Author(s)
      Shi D, Takano Y, Nakazawa T, MengkegaleM, Yokokura S, Nishida K, Fuse N.
    • Journal Title

      Biochemical and Biophysical Research Communications

      Volume: 15;432(3) Issue: 3 Pages: 509-512

    • DOI

      10.1016/j.bbrc.2013.02.003

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of HK2and NCK2 with Normal Tension Glaucoma in the Japanese Population2013

    • Author(s)
      Shi D, Funayama T, Mashima Y, Takano Y,Shimizu A, YamamotoK, Mengkegale M, Miyazawa A, Yasuda N, Fukuchi T, Abe H, Ideta H, Nishida K, Nakazawa T, Richards JE, Fuse N.
    • Journal Title

      PLoS ONE

      Volume: 8; e54115 Pages: 1-11

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Evaluation of CNTNAP2gene polymorphisms for exfoliation syndrome in Japanese2012

    • Author(s)
      Shimizu A, Takano Y, Shi D, Yokokura S,Yokoyama Y, Zheng X, Shiraishi A, Ohashi Y, Nakazawa T, Fuse N.
    • Journal Title

      Mol Vis

      Volume: 18 Issue: 1 Pages: 1395-1401

    • DOI

      10.1371/journal.pone.0054115

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of Toll-like receptor 4 gene polymorphisms in Japanese subjects with primary open angle, normal tension, and exfoliation glaucoma2012

    • Author(s)
      Takano Y, Shi D, Shimizu A, Funayama T, Mashima Y, Yasuda N, Fukuchi T, Abe H, Ideta H, Zheng X, Shiraishi A, Ohashi Y, Nishida K, Nakazawa T, Fuse N.
    • Journal Title

      Am J Ophthalmol

      Volume: 154 Issue: 5 Pages: 825-832

    • DOI

      10.1016/j.ajo.2012.03.050

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese.2012

    • Author(s)
      Shimizu A
    • Journal Title

      Mol Vis

      Volume: 18 Pages: 1395-1401

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of Toll-like receptor 4 gene polymorphisms in Japanese subjects with primary open angle, normal tension, and exfoliation glaucoma2012

    • Author(s)
      Takano Y, Fuse N, et al
    • Journal Title

      Am J Ophthalmol

      Volume: (未定)(in press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in Japanese with Age-related Macular Degeneration2011

    • Author(s)
      Fuse N, et al
    • Journal Title

      Am J Ophthalmol

      Volume: 151 Pages: 550-556

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] Molecular Genetic Analysis for Glaucoma using Next-Generation Sequencing Technology. Asia-Pacific Academy of Ophthalmology2013

    • Author(s)
      Fuse N.
    • Organizer
      Subspecialty Symposium
    • Place of Presentation
      Hyderabad. India
    • Year and Date
      2013-01-18
    • Related Report
      2012 Final Research Report
  • [Presentation] Molecular Genetic Analysis for Glaucoma using Next-Generation Sequencing Technology2013

    • Author(s)
      Fuse N
    • Organizer
      Asia-Pacific Academy of Ophthalmology
    • Place of Presentation
      Hyderabad. India
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 遺伝と診断2012

    • Author(s)
      布施昇男
    • Organizer
      第23回緑内障学会シンポジウム小児緑内障
    • Place of Presentation
      金沢
    • Year and Date
      2012-09-28
    • Related Report
      2012 Final Research Report
  • [Presentation] Evaluation for CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese2012

    • Author(s)
      Shimizu A, Fuse N, Takano Y, Shi D, Zheng X, Shiraishi A, Ohashi Y, Nakazawa T.
    • Organizer
      The 84th annual meeting of the Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Ft. Lauderdale, FL
    • Year and Date
      2012-05-10
    • Related Report
      2012 Final Research Report
  • [Presentation] Hot topics. Genetics and Biomarkers in Glaucoma2012

    • Author(s)
      Fuse N.
    • Organizer
      Asia-Pacific Academy of Ophthalmology
    • Place of Presentation
      Busan. Korea
    • Year and Date
      2012-04-13
    • Related Report
      2012 Final Research Report
  • [Presentation] 日本人における落屑症候群とCNTNAP2遺伝子多型の関連について2012

    • Author(s)
      清水愛、布施昇男、高野良真、石棟、鄭暁東、白石敦、大橋裕一、中澤徹
    • Organizer
      第116回日本眼科学会総会
    • Year and Date
      2012-04-06
    • Related Report
      2012 Final Research Report
  • [Presentation] 開放隅角緑内障、嚢性緑内障におけるCAV1、CAV2遺伝子の評価2012

    • Author(s)
      高野良真、布施昇男、清水愛、石棟、中澤徹
    • Organizer
      日本眼科学会
    • Year and Date
      2012-04-06
    • Related Report
      2012 Final Research Report
  • [Presentation] Genetics and Biomarkers in Glaucoma2012

    • Author(s)
      Fuse N
    • Organizer
      Asia-Pacific Academy of Ophthalmology
    • Place of Presentation
      Busan, Korea
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Evaluation for CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese.2012

    • Author(s)
      Shimizu A
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Ft. Lauderdale, FL, USA
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 小児緑内障 遺伝と診断2012

    • Author(s)
      布施昇男
    • Organizer
      第23回緑内障学会
    • Place of Presentation
      金沢
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 日本人における落屑症候群とCNTNAP2遺伝子多型の関連について2012

    • Author(s)
      布施昇男
    • Organizer
      第116回日本眼科学会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 開放隅角緑内障、嚢性緑内障におけるCAV1、CAV2遺伝子の評価2012

    • Author(s)
      布施昇男
    • Organizer
      第116回日本眼科学会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 開放隅角緑内障、偽落屑症候群におけるTLR4遺伝子の評価2011

    • Author(s)
      高野良真
    • Organizer
      第22回日本緑内障学会
    • Place of Presentation
      秋田
    • Year and Date
      2011-09-23
    • Related Report
      2011 Annual Research Report
  • [Presentation] 正常眼圧緑内障におけるTLR4遺伝子の評価2011

    • Author(s)
      高野良真
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Year and Date
      2011-05-12
    • Related Report
      2011 Annual Research Report
  • [Presentation] 緑内障の遺伝子診断2010

    • Author(s)
      布施昇男
    • Organizer
      第21回日本緑内障学会
    • Place of Presentation
      福岡県博多市
    • Year and Date
      2010-09-25
    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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